Rare Disease Library

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome

Early-onset sutural cataract

Early-onset cataract with Y-shaped suture opacities

Early-onset zonular cataract

Eyebrow duplication-syndactyly syndrome

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Familial clubfoot due to 17q23.1q23.2 microduplication

Hereditary clubfoot due to 17q23.1-q23.2 microduplication

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

Foveal hypoplasia-presenile cataract syndrome

O'Donnell-Pappas syndrome

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

Generalized arterial calcification of infancy

Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy

Hereditary arterial and articular multiple calcification syndrome

CALJA · Calcification of joints and arteries

Hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract disease · HHCS

Hypergonadotropic hypogonadism-cataract syndrome

Lubinsky syndrome

Hypomyelination-congenital cataract syndrome

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

Infantile choroidocerebral calcification syndrome

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome

Interatrial communication

ASD · Atrial septal defect

Interstitial lung disease-brain calcification syndrome

Interstitial lung disease-brain calcification syndrome, Rajab type · Developmental delay-brain calcification-interstitial lung disease syndrome

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

Isolated anal canal duplication

ACD

Isolated colonic duplication

Isolated duplication of the colon

Isolated congenital femoral bifurcation

Isolated congenital distal femoral duplication

Isolated congenital radial head dislocation

Isolated congenital elbow dislocation

Isolated digestive duplication cyst of the tongue

Enteric duplication cyst of the tongue · Foregut duplication cyst of the tongue

Isolated duodenal duplication

Isolated duplication of the duodenum

Isolated esophageal duplication cyst

Isolated gallbladder duplication

Isolated gastric duplication

Isolated stomach duplication

Isolated jejuno-ileal duplication

Isolated duplication of the jejunum and ileum

Isolated pyloric duplication

Isolated duplication cyst of the pyloric canal · Isolated duplication cyst of the pylorus

Isolated rectal duplication

Isolated small intestine duplication

Isolated tubular duplication of the esophagus

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

Juvenile cataract-microcornea-renal glucosuria syndrome

Juvenile cataract-microcornea-renal glycosuria syndrome

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Leukoencephalopathy with calcifications and cysts

Labrune syndrome · LCC

Metabolic disease with cataract

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Microduplication Xp11.22p11.23 syndrome

Dup(X)(p11.22p11.23) · Trisomy Xp11.22p11.23

Microtriplication 11q24.1 syndrome

Tetrasomy 11q24.1

MiT family translocation renal cell carcinoma

Carcinoma associated with MITF/TFE translocation · Kidney cancer

Musculoskeletal disease with cataract

Neuroendocrine tumor with other location